Gene analysis of genomic DNA from stored serum by polymerase chain reaction: identification of three missense mutations in patients with cholinesterasemia and ABO genotyping
We established a method to determine the butyrylcholinesterase genotype associated with a BCHE deficiency directly using multiple PCR from stored serum, which was stored at −70°C for more than 30 years. PCR products from sera of six propositi were used for DNA sequence analysis. All of these BChE va...
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| Veröffentlicht in: | Clinica chimica acta 2001, Vol.303 (1), p.61-67 |
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| container_title | Clinica chimica acta |
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| creator | Hidaka, Kazuo Watanabe, Yoko Tomita, Masafumi Ueda, Naoki Higashi, Mayumi Minatogawa, Yohsuke Iuchi, Iwao |
| description | We established a method to determine the butyrylcholinesterase genotype associated with a BCHE deficiency directly using multiple PCR from stored serum, which was stored at −70°C for more than 30 years. PCR products from sera of six propositi were used for DNA sequence analysis. All of these BChE variants were characterized by a single nucleotide substitution. Four of them were homozygotes and demonstrated a C→T single nucleotide point mutation at codon 100 from CCA (Pro) to TCA (Ser). The fifth case was a heterozygote of this mutation. The remaining one was a compound heterozygote showing a T→C transition mutation at codon 203 from TCA (Ser) to CCA (Pro) and a G→C transversion mutation at codon 365 from GGA (Gly) to CGA (Arg). Furthermore we developed a method to determine the ABO genotype from the same serum. These results indicated that serum is useful as a starting material for amplification of genomic DNA when fresh blood samples are not available. |
| doi_str_mv | 10.1016/S0009-8981(00)00375-2 |
| format | Article |
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PCR products from sera of six propositi were used for DNA sequence analysis. All of these BChE variants were characterized by a single nucleotide substitution. Four of them were homozygotes and demonstrated a C→T single nucleotide point mutation at codon 100 from CCA (Pro) to TCA (Ser). The fifth case was a heterozygote of this mutation. The remaining one was a compound heterozygote showing a T→C transition mutation at codon 203 from TCA (Ser) to CCA (Pro) and a G→C transversion mutation at codon 365 from GGA (Gly) to CGA (Arg). Furthermore we developed a method to determine the ABO genotype from the same serum. These results indicated that serum is useful as a starting material for amplification of genomic DNA when fresh blood samples are not available.</description><identifier>ISSN: 0009-8981</identifier><identifier>EISSN: 1873-3492</identifier><identifier>DOI: 10.1016/S0009-8981(00)00375-2</identifier><identifier>PMID: 11163024</identifier><identifier>CODEN: CCATAR</identifier><language>eng</language><publisher>Shannon: Elsevier B.V</publisher><subject>ABO Blood-Group System - genetics ; ABO genotype ; Base Sequence ; BCHE genotype ; Biological and medical sciences ; Butyrylcholinesterase - blood ; DNA - blood ; DNA - genetics ; DNA Primers ; Drug toxicity and drugs side effects treatment ; Female ; Genotype ; Humans ; Male ; Medical sciences ; Missense mutation ; Mutation, Missense ; Pedigree ; Pharmacology. Drug treatments ; Polymerase Chain Reaction ; Stored serum ; Toxicity: respiratory system, ent, stomatology</subject><ispartof>Clinica chimica acta, 2001, Vol.303 (1), p.61-67</ispartof><rights>2001 Elsevier Science B.V.</rights><rights>2001 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c389t-bd260274ca5e08d325809842a1a1cfc24ac7b1750239621b3c762e73a59a99913</citedby><cites>FETCH-LOGICAL-c389t-bd260274ca5e08d325809842a1a1cfc24ac7b1750239621b3c762e73a59a99913</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0009898100003752$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,4010,27900,27901,27902,65306</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=951783$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11163024$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Hidaka, Kazuo</creatorcontrib><creatorcontrib>Watanabe, Yoko</creatorcontrib><creatorcontrib>Tomita, Masafumi</creatorcontrib><creatorcontrib>Ueda, Naoki</creatorcontrib><creatorcontrib>Higashi, Mayumi</creatorcontrib><creatorcontrib>Minatogawa, Yohsuke</creatorcontrib><creatorcontrib>Iuchi, Iwao</creatorcontrib><title>Gene analysis of genomic DNA from stored serum by polymerase chain reaction: identification of three missense mutations in patients with cholinesterasemia and ABO genotyping</title><title>Clinica chimica acta</title><addtitle>Clin Chim Acta</addtitle><description>We established a method to determine the butyrylcholinesterase genotype associated with a BCHE deficiency directly using multiple PCR from stored serum, which was stored at −70°C for more than 30 years. PCR products from sera of six propositi were used for DNA sequence analysis. All of these BChE variants were characterized by a single nucleotide substitution. Four of them were homozygotes and demonstrated a C→T single nucleotide point mutation at codon 100 from CCA (Pro) to TCA (Ser). The fifth case was a heterozygote of this mutation. The remaining one was a compound heterozygote showing a T→C transition mutation at codon 203 from TCA (Ser) to CCA (Pro) and a G→C transversion mutation at codon 365 from GGA (Gly) to CGA (Arg). Furthermore we developed a method to determine the ABO genotype from the same serum. These results indicated that serum is useful as a starting material for amplification of genomic DNA when fresh blood samples are not available.</description><subject>ABO Blood-Group System - genetics</subject><subject>ABO genotype</subject><subject>Base Sequence</subject><subject>BCHE genotype</subject><subject>Biological and medical sciences</subject><subject>Butyrylcholinesterase - blood</subject><subject>DNA - blood</subject><subject>DNA - genetics</subject><subject>DNA Primers</subject><subject>Drug toxicity and drugs side effects treatment</subject><subject>Female</subject><subject>Genotype</subject><subject>Humans</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Missense mutation</subject><subject>Mutation, Missense</subject><subject>Pedigree</subject><subject>Pharmacology. Drug treatments</subject><subject>Polymerase Chain Reaction</subject><subject>Stored serum</subject><subject>Toxicity: respiratory system, ent, stomatology</subject><issn>0009-8981</issn><issn>1873-3492</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2001</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkc1u1DAUhS0EokPhEUCWkBAsAv7Jn9mgoUBBqugCWFse56ZjlNiprwPKQ_GOeDKjsmRlW_7O8fE9hDzl7DVnvH7zjTGmila1_CVjrxiTTVWIe2TD20YWslTiPtncIWfkEeLPfCxZzR-SM855LZkoN-TPJXigxpthQYc09PQGfBidpR--bmkfw0gxhQgdRYjzSHcLncKwjBANArV74zyNYGxywb-lrgOfXO-sOZwPbmkfAejoEMFnwTin9Qpp1k15m3mkv13aZ68wOA-YVuvRmZyqo9v312uitEzO3zwmD3ozIDw5refkx6eP3y8-F1fXl18utleFla1Kxa4TNRNNaU0FrO2kqFqm2lIYbrjtrSiNbXa8qZiQqhZ8J21TC2ikqZRRSnF5Tl4cfacYbuecSecfWBgG4yHMqJs8xqqtVQarI2hjQIzQ6ym60cRFc6YPPem1J30oQTOm1560yLpnpwfm3QjdP9WpmAw8PwEGrRn6aLx1eMepijetzNS7IwV5GL8cRI02j9RC5yLYpLvg_hPkL_ZSsbs</recordid><startdate>2001</startdate><enddate>2001</enddate><creator>Hidaka, Kazuo</creator><creator>Watanabe, Yoko</creator><creator>Tomita, Masafumi</creator><creator>Ueda, Naoki</creator><creator>Higashi, Mayumi</creator><creator>Minatogawa, Yohsuke</creator><creator>Iuchi, Iwao</creator><general>Elsevier B.V</general><general>Elsevier</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>2001</creationdate><title>Gene analysis of genomic DNA from stored serum by polymerase chain reaction: identification of three missense mutations in patients with cholinesterasemia and ABO genotyping</title><author>Hidaka, Kazuo ; Watanabe, Yoko ; Tomita, Masafumi ; Ueda, Naoki ; Higashi, Mayumi ; Minatogawa, Yohsuke ; Iuchi, Iwao</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c389t-bd260274ca5e08d325809842a1a1cfc24ac7b1750239621b3c762e73a59a99913</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2001</creationdate><topic>ABO Blood-Group System - genetics</topic><topic>ABO genotype</topic><topic>Base Sequence</topic><topic>BCHE genotype</topic><topic>Biological and medical sciences</topic><topic>Butyrylcholinesterase - blood</topic><topic>DNA - blood</topic><topic>DNA - genetics</topic><topic>DNA Primers</topic><topic>Drug toxicity and drugs side effects treatment</topic><topic>Female</topic><topic>Genotype</topic><topic>Humans</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Missense mutation</topic><topic>Mutation, Missense</topic><topic>Pedigree</topic><topic>Pharmacology. Drug treatments</topic><topic>Polymerase Chain Reaction</topic><topic>Stored serum</topic><topic>Toxicity: respiratory system, ent, stomatology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Hidaka, Kazuo</creatorcontrib><creatorcontrib>Watanabe, Yoko</creatorcontrib><creatorcontrib>Tomita, Masafumi</creatorcontrib><creatorcontrib>Ueda, Naoki</creatorcontrib><creatorcontrib>Higashi, Mayumi</creatorcontrib><creatorcontrib>Minatogawa, Yohsuke</creatorcontrib><creatorcontrib>Iuchi, Iwao</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Clinica chimica acta</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Hidaka, Kazuo</au><au>Watanabe, Yoko</au><au>Tomita, Masafumi</au><au>Ueda, Naoki</au><au>Higashi, Mayumi</au><au>Minatogawa, Yohsuke</au><au>Iuchi, Iwao</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Gene analysis of genomic DNA from stored serum by polymerase chain reaction: identification of three missense mutations in patients with cholinesterasemia and ABO genotyping</atitle><jtitle>Clinica chimica acta</jtitle><addtitle>Clin Chim Acta</addtitle><date>2001</date><risdate>2001</risdate><volume>303</volume><issue>1</issue><spage>61</spage><epage>67</epage><pages>61-67</pages><issn>0009-8981</issn><eissn>1873-3492</eissn><coden>CCATAR</coden><abstract>We established a method to determine the butyrylcholinesterase genotype associated with a BCHE deficiency directly using multiple PCR from stored serum, which was stored at −70°C for more than 30 years. PCR products from sera of six propositi were used for DNA sequence analysis. All of these BChE variants were characterized by a single nucleotide substitution. Four of them were homozygotes and demonstrated a C→T single nucleotide point mutation at codon 100 from CCA (Pro) to TCA (Ser). The fifth case was a heterozygote of this mutation. The remaining one was a compound heterozygote showing a T→C transition mutation at codon 203 from TCA (Ser) to CCA (Pro) and a G→C transversion mutation at codon 365 from GGA (Gly) to CGA (Arg). Furthermore we developed a method to determine the ABO genotype from the same serum. These results indicated that serum is useful as a starting material for amplification of genomic DNA when fresh blood samples are not available.</abstract><cop>Shannon</cop><pub>Elsevier B.V</pub><pmid>11163024</pmid><doi>10.1016/S0009-8981(00)00375-2</doi><tpages>7</tpages></addata></record> |
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| subjects | ABO Blood-Group System - genetics ABO genotype Base Sequence BCHE genotype Biological and medical sciences Butyrylcholinesterase - blood DNA - blood DNA - genetics DNA Primers Drug toxicity and drugs side effects treatment Female Genotype Humans Male Medical sciences Missense mutation Mutation, Missense Pedigree Pharmacology. Drug treatments Polymerase Chain Reaction Stored serum Toxicity: respiratory system, ent, stomatology |
| title | Gene analysis of genomic DNA from stored serum by polymerase chain reaction: identification of three missense mutations in patients with cholinesterasemia and ABO genotyping |
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